A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4165761



Internal ID20384535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1991734..2244240hg38UCSC Ensembl
chr8:1939900..2192000hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38252507
hg19252101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15982215
Samples
Known GenesKBTBD11, MIR7160, MYOM2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4165761
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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